ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.6057C>T (p.Leu2019=)

gnomAD frequency: 0.00077  dbSNP: rs140907869
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153035 SCV000202489 benign not specified 2014-02-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807098 SCV002055939 benign Cornelia de Lange syndrome 1 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001807098 SCV002463840 benign Cornelia de Lange syndrome 1 2025-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354356 SCV002654906 likely benign Inborn genetic diseases 2018-01-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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